autosomal dominant nonsyndromic deafness 9

Summary
Synonym
  • DFNA9
  • autosomal dominant deafness 9
Definition
An autosomal dominant nonsyndromic deafness that is characterized by postlingual onset in the second decade with high frequency progressive hearing loss and has_material_basis_in mutation in the COCH gene on chromosome 14q12.
Super Class
autosomal dominant nonsyndromic deafness
Disease Ontology
DOID:0110593
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1690 COCH cochlin
Displaying 1 entry
Gene ID Gene Symbol Description Source
12810 Coch cochlin
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
O43405 Cochlin
Displaying 1 entry
UniProt ID Protein Name Source
Q62507 Cochlin

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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